InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SPAST

Summary

InnateDB Gene

IDBG-43191.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SPAST

Gene Name

spastin

Synonyms

ADPSP; FSP2; SPG4

Species

Homo sapiens

Ensembl Gene

ENSG00000021574

Encoded Proteins

IDBP-43193

spastin

IDBP-43195

spastin

IDBP-811320

spastin

IDBP-811321

spastin

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:32063611-32157637

Strand

Forward strand

Band

p22.3

Transcripts

ENST00000315285	ENSP00000320885
ENST00000345662	ENSP00000340817
ENST00000621856	ENSP00000482496
ENST00000615843	ENSP00000480893

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.

Experimentally validated
Total	10 [view]
Protein-Protein	7 [view]
Protein-DNA	2 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008017	microtubule binding
GO:0008568	microtubule-severing ATPase activity
GO:0009378	four-way junction helicase activity
GO:0043014	alpha-tubulin binding
GO:0048487	beta-tubulin binding

Biological Process

GO:0001578	microtubule bundle formation
GO:0006200	ATP catabolic process
GO:0006281	DNA repair
GO:0006310	DNA recombination
GO:0006888	ER to Golgi vesicle-mediated transport
GO:0007109	cytokinesis, completion of separation
GO:0007409	axonogenesis
GO:0008219	cell death
GO:0031117	positive regulation of microtubule depolymerization
GO:0034214	protein hexamerization
GO:0051013	microtubule severing
GO:0051260	protein homooligomerization

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005768	endosome
GO:0005783	endoplasmic reticulum
GO:0005813	centrosome
GO:0005819	spindle
GO:0005874	microtubule
GO:0015630	microtubule cytoskeleton
GO:0016021	integral component of membrane
GO:0030496	midbody
GO:0031410	cytoplasmic vesicle
GO:0048471	perinuclear region of cytoplasm
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000024068

View Gene Order

ENSBTAG00000021694

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

NM_014946 NM_199436 XM_005264516

HUGO

OMIM

CCDS

CCDS1778 CCDS1779

HPRD

IMGT

EMBL

GenPept

RNA Seq Atlas